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Atelosteogenesis
Janice L. B. Byrne, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Clinical Issues

        TERMINOLOGY

        • Definitions

          • Rhizomelic short limb skeletal dysplasia

        IMAGING

        • Ultrasonographic Findings

          • Radiographic Findings

            • Imaging Recommendations

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  CLINICAL ISSUES

                  • Natural History & Prognosis

                    Selected References

                    1. Jeon GW et al: Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med. 34(2):134-8, 2014
                    2. Wessels A et al: Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol. 14(6):496-500, 2011
                    3. Dwyer E et al: Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 152A(12):3043-50, 2010
                    4. Luewan S et al: Prenatal sonographic features of fetal atelosteogenesis type 1. J Ultrasound Med. 28(8):1091-5, 2009
                    5. Sawyer GM et al: Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 390(5):1030-47, 2009
                    6. Cordier AG et al: Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. Prenat Diagn. 28(10):975-7, 2008
                    7. Miller E et al: Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol. 38(12):1345-9, 2008
                    8. Miyake A et al: A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet. 53(8):764-8, 2008
                    9. Lu J et al: Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 16(14):1661-75, 2007
                    10. Zhou X et al: Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A. 104(10):3919-24, 2007
                    11. Farrington-Rock C et al: Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 27(7):705-10, 2006
                    12. Forlino A et al: Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Novartis Found Symp. 273:193-206; discussion 206-12, 261-4, 2006
                    13. Maeda K et al: A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 140(11):1143-7, 2006
                    14. Bicknell LS et al: Mutations in FLNB cause boomerang dysplasia. J Med Genet. 42(7):e43, 2005
                    15. Fernandez-Aguilar S et al: Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. Prenat Diagn. 25(8):717-8, 2005
                    16. Forlino A et al: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 14(6):859-71, 2005
                    17. Krakow D et al: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 36(4):405-10, 2004
                    18. Macías-Gómez NM et al: Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A. 129A(2):190-2, 2004
                    19. Ueno K et al: Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn. 22(12):1071-5, 2002
                    20. Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001
                    Related Anatomy
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                    Related Differential Diagnoses
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                    References
                    Tables

                    Tables

                    KEY FACTS

                    • Imaging

                      • Top Differential Diagnoses

                        • Clinical Issues

                          TERMINOLOGY

                          • Definitions

                            • Rhizomelic short limb skeletal dysplasia

                          IMAGING

                          • Ultrasonographic Findings

                            • Radiographic Findings

                              • Imaging Recommendations

                                DIFFERENTIAL DIAGNOSIS

                                  PATHOLOGY

                                  • General Features

                                    CLINICAL ISSUES

                                    • Natural History & Prognosis

                                      Selected References

                                      1. Jeon GW et al: Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Ann Lab Med. 34(2):134-8, 2014
                                      2. Wessels A et al: Atelosteogenesis type I: autopsy findings. Pediatr Dev Pathol. 14(6):496-500, 2011
                                      3. Dwyer E et al: Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 152A(12):3043-50, 2010
                                      4. Luewan S et al: Prenatal sonographic features of fetal atelosteogenesis type 1. J Ultrasound Med. 28(8):1091-5, 2009
                                      5. Sawyer GM et al: Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 390(5):1030-47, 2009
                                      6. Cordier AG et al: Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. Prenat Diagn. 28(10):975-7, 2008
                                      7. Miller E et al: Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol. 38(12):1345-9, 2008
                                      8. Miyake A et al: A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet. 53(8):764-8, 2008
                                      9. Lu J et al: Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 16(14):1661-75, 2007
                                      10. Zhou X et al: Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development. Proc Natl Acad Sci U S A. 104(10):3919-24, 2007
                                      11. Farrington-Rock C et al: Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 27(7):705-10, 2006
                                      12. Forlino A et al: Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Novartis Found Symp. 273:193-206; discussion 206-12, 261-4, 2006
                                      13. Maeda K et al: A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am J Med Genet A. 140(11):1143-7, 2006
                                      14. Bicknell LS et al: Mutations in FLNB cause boomerang dysplasia. J Med Genet. 42(7):e43, 2005
                                      15. Fernandez-Aguilar S et al: Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. Prenat Diagn. 25(8):717-8, 2005
                                      16. Forlino A et al: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet. 14(6):859-71, 2005
                                      17. Krakow D et al: Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 36(4):405-10, 2004
                                      18. Macías-Gómez NM et al: Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A. 129A(2):190-2, 2004
                                      19. Ueno K et al: Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. Prenat Diagn. 22(12):1071-5, 2002
                                      20. Karniski LP: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. Hum Mol Genet. 10(14):1485-90, 2001